Characterization of Genomic Variants in CSH1 and GH2, Two Candidate Genes for Silver-Russell Syndrome in 17q24-q25
Author:
Affiliation:
1. Institute of Human Genetics, RWTH Aachen, Germany
2. Children's Hospital, Growth Research Centre, University of Tübingen, Germany
Publisher
Mary Ann Liebert Inc
Subject
Genetics(clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/109065703322537304
Reference19 articles.
1. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
2. Genomic structure of karyopherin ?2 ( KPNA2 ) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome
3. Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy
4. Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.
5. Screening for Mutations in the Promoter and the Coding Region of the IGFBP1 and IGFBP3 Genes in Silver-Russell Syndrome Patients
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3. Identifying novel protein phenotype annotations by hybridizing protein–protein interactions and protein sequence similarities;Molecular Genetics and Genomics;2016-01-04
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